Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-90798-z
Abstract: MBD5-associated neurodevelopmental disorder (MAND) is an autism spectrum disorder (ASD) characterized by intellectual disability, motor delay, speech impairment and behavioral problems; however, the biological role of methyl-CpG-binding domain 5, MBD5, in neurodevelopment and ASD remains… read more here.
Keywords: associated neurodevelopmental; mbd5 associated; autism; disorder ... See more keywords
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
Sign Up to like & getrecommendations! Published in 2021 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000579
Abstract: Objective To describe the phenotypic spectrum in patients with MBD5-associated neurodevelopmental disorder (MAND) and seizures; features of MAND include intellectual disability, epilepsy, psychiatric features of aggression and hyperactivity, and dysmorphic features including short stature and… read more here.
Keywords: mbd5 associated; associated neurodevelopmental; neurodevelopmental disorder; phenotypic spectrum ... See more keywords